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Table 2 GALT genotypes in the Polish cohort

From: The genetic basis of classical galactosaemia in Polish patients

Genotype Families Patients
ALLEL 1 ALLEL 2 n % n %
cDNA name Amino acid name Effect cDNA name Amino acid name Effect
c.563A>G p.Gln188Arg m c.563A>G p.Gln188Arg m 53* 30 60 31
c.563A>G p.Gln188Arg m c.855G>T p.Lys285Asn m 39 22 41 21
c.855G>T p.Lys285Asn m c.855G>T p.Lys285Asn m 26* 15 29 15
c.563A>G p.Gln188Arg m c.997C>T p.Arg333Trp m 3 2 4 2
c.855G>T p.Lys285Asn m c.958G>A p.Ala320Thr m 3 2 3 2
c.855G>T p.Lys285Asn m c.997C>T p.Arg333Trp m 3 2 3 2
c.152G>T p.Arg51Leu m c.563A>G p.Gln188Arg m 3 2 4 2
c.626A>G p.Tyr209Cys m c.563A>G p.Gln188Arg m 2 1 3 2
c.855G>T p.Lys285Asn m c.1138T>C p.Ter380Arg STOP codon loss 2 1 3 2
c.855G>T p.Lys285Asn m c.83-11T>G   spl 1 1 2 1
c.563A>G p.Gln188Arg m c.-119_-116delGTCA; c.940A>G NA;p.Asn314Asp spl 2 1 2 1
c.329-2A>C nd spl c.563A>G p.Gln188Arg m 1 1 2 1
c.563A>G p.Gln188Arg m c.1014C>G p.Gly338Gly spl 2 1 2 1
c.329-2A>C nd spl c.855G>T p.Lys285Asn m 2 1 2 1
c.425T>A p.Met142Lys m c.855G>T p.Lys285Asn m 2 1 2 1
c.563A>G p.Gln188Arg m c.425T>A p.Met142Lys m 1 1 2 1
c.260C>T p.Pro87Leu m c.626A>C p.Tyr209Ser m 1 1 2 1
c.563A>G p.Gln188Arg m c.329-2A>C NA spl 1 1 1 1
c.855G>T p.Lys285Asn m c.329-2A>C NA spl 2 1 2 1
c.855G>T p.Lys285Asn m c.-119_-116delGTCA;       
c.940A>G NA;p.Asn314Asp spl 1 1% 1 1%    
c.392T>G p.Phe131Cys m c.958G>A p.Ala320Thr m 1 1 1 1
c.563A>G p.Gln188Arg m c.611G>C p.Arg204Pro m 1 1 1 1
c.329-2A>C NA spl c.982C>T p.Arg328Cys m 1 1 1 1
c.329-2A>C NA spl c.329-2A>C NA spl 1 1 1 1
c.563A>G p.Gln188Arg m c.152G>A p.Arg51Gln m 1 1 1 1
c.563A>G p.Gln188Arg m c.152G>T p.Arg51Leu m 1 1 1 1
c.563A>G p.Gln188Arg m c.490C>T p.Gln164Ter PTC 1 1 1 1
c.329-2A>C NA m c.505C>A p.Gln169Lys m 1 1 1 1
c.563A>G p.Gln188Arg m unknown unknown   1 1 1 1
c.134C>T p.Ser45Leu m c.563A>G p.Gln188Arg m 1 1 1 1
c.404C>T p.Ser135Leu m c.563A>G p.Gln188Arg m 1 1 1 1
c.499T>C p.Trp167Arg m c.563A>G p.Gln188Arg m 1 1 1 1
c.507+2T>C NA m c.563A>G p.Gln188Arg m 1 1 1 1
c.152G>T p.Arg51Leu m c.563A>G p.Gln188Arg m 1 1 1 1
c.563A>G p.Gln188Arg m c.812A>G p.Glu271Gly m 1 1 1 1
c.563A>G p.Gln188Arg m 1054G>C p.Glu352Gln m 1 1 1 1
c.425T>A p.Met142Lys m c.584T>C p.Leu195Pro m 1 1 1 1
c.285T>G p.Phe95Leu m c.855G>T p.Lys285Asn m 1 1 1 1
c.626A>C p.Tyr209Ser m unknown unknown   1 1 1 1
c.626A>C p.Tyr209Ser m c.855G>T p.Lys285Asn m 1 1 1 1
c.812A>G p.Glu271Gly m c.855G>T p.Lys285Asn m 1 1 1 1
c.584T>C p.Leu195Pro m c.855G>T p.Lys285Asn m 1 1 1 1
c.626A>C p.Tyr209Ser m c.855G>T p.Lys285Asn m 1 1 1 1
c.329-2A>C NA spl c.748C>A p.Pro250Thr m 1 1 1 1
c.563A>G p.Gln188Arg m c.499T>C p.Trp167Arg m 1 1 1 1
  1. NA doesn't apply, unknown not detected, m missense, spl splicing, PTC premature termination codon
  2. *Study limitation: the analytical method used does not exclude the possibility of the presence of a large deletion within the GALT gene in one allele in the case of homozygous patients